Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
G/A|Ancestral: G|Ambiguity code: R
Location

Chromosome 18:23538651 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM012436

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 7 HGVS names - Hide

18:g.23538651G>A
ENST00000591075.1:n.565C>T
ENST00000591955.1:n.275C>T
ENST00000269228.9:c.2932C>T
ENSP00000269228.4:p.Arg978Cys
ENST00000591051.1:c.2010C>T
ENSP00000467636.1:p.Arg671Cys

About this variant

This variant overlaps 10 transcripts, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays